Venice foundation raises awareness of rare genetic condition

Sue Lomas remembers that first gathering for those affected by a little-known genetic condition known as Phelan-McDermid syndrome.

About 20 of the 23 of the families then known to have a family member with the condition traveled to Greenville, S.C., in 1998 to an informal meeting coordinated by Katy Phelan, the doctor who had discovered the chromosomal abnormality.

Lomas' son, Sammy, the first child ever diagnosed in utero, was 4. He was developmentally delayed, medically fragile and cute as a button.

Lomas looked at the families in the conference room and thought, “These are not my people,” she recalls. “Sam was so adorable. I kept thinking, ‘I have got to get out of here.' ”

Fifteen years later, Lomas' work as president of the Phelan-McDermid Syndrome Foundation is central to her life.

The number of diagnosed cases of PMS has grown to 900 and, whether she has met them or not, Lomas now thinks of every one of those people as “family.”

“The fun part of my job is this extended group of PM people,” says Lomas, seated in the conference room of the foundation's headquarters in Venice. “We're like sisters and brothers. We just have this glue.”

Another kind of PMS

Individuals with PMS are missing genetic material on the 13th shank of the 22nd chromosome. Most children with PMS have moderate to severe cognitive disabilities, many do not develop functional language and some exhibit behavioral issues, seizures and sleep disorders.

Linked to autism, PMS remains largely unknown to those unaffected; the foundation's primary mission is to raise awareness. Lomas often wears a T-shirt with wording that invites questions: “PMS — It's not what you think.”

The nonprofit, founded in 2003, has a budget of just more than $500,000 and hired its first employee last year. Its success in the online philanthropy drive known as the Giving Partner Challenge fundraiser in March — it finished first — was due to an expansive network of PMS-affected families throughout the world.

“Nonprofits have to start somewhere and we started very grass roots,” says Barbara Cruz, who came on as executive director one year ago. “We're a tiny little nonprofit with 3 1/2 people on staff and some really awesome volunteers.”

For the online fundraiser, Cruz and her staff of two worked for nearly a year in advance, getting out the word through the foundation's membership of 600 and with social media, including Facebook pages in seven languages.

The nonprofit took in more than $146,000 in donations and matching funds during the 36-hour drive.

If the foundation's profile is less known in its own backyard, there is a good reason.

“These are people who have kids with disabilities,” says Cruz. “They're incredibly busy.”

Though the organization has had a local presence for the past four years through “Sammy's Run,” an annual fundraising event put on by the foundation and Oak Park School, where Sammy Lomas has been enrolled for 15 years, few people connect the race to the syndrome, Cruz says.

The Challenge extended the group's reach to more than 18,000 people world-wide. It has begun working with universities like Harvard, Stanford, MIT and Duke to promote research and two years ago created a registry to obtain data for statistical purposes.

An angel on earth

Because reliable testing was not available until 1998, those diagnosed with PMS are mostly younger than Sammy Lomas, who just turned 19.

“But we also know it's very underdiagnosed,” says Sue Lomas. “We know there are a lot more out there.”

Sammy Lomas, who is painfully thin, represents the more severe end of PMS. He has endured multiple surgeries, gastrointestinal problems, seizures and cataracts yet still has a sweet and accepting nature.

“He has such a gentle soul,” says Sue Lomas. “No preconceptions, no judgment, just sort of an angel on earth.”

There are days when the heartache of his condition is driven home. Lomas remembers crying over a Facebook post from another mother about hating her son's white socks, because she knew they would never grow dirty. Recently, Sue and her husband, Rich, had to declare their son incompetent in court so they could gain legal guardianship.

“It just reiterates the sadness of it all,” Lomas says.

But there are joyful moments too. A daily excursion is a trip down the Legacy trail in their “duet bike” — a bicycle with a wheelchair attached to the front — Sam's favorite activity of the day.

Sue Lomas' extended family from around the country will gather here for “Sammy's Run.” Rich Lomas, a member of the Manasota Tri Club, will push Sammy in the race, a precursor to one day soon doing the same in the Boston Marathon.

Last year Sue Lomas gave up her PMSF salary, no longer feeling justified taking wages when so many other parents are volunteering.

But she is still at the office several days a week and recently made her first overseas trip to meet with a support group in England and lay some groundwork for international expansion.

There will not ever be a day, she says, when PMS is not foremost in her mind and her heart.

“This isn't what you would choose for your child, but this is our lives, so we embrace it,” Lomas says.

“There are times I allow myself to think, ‘Can we, just as parents, impact this world of autism? Is that the reason we were given the privilege of being Sammy's parents?'